目的　探讨新发现的印迹基因BWR1A突变与胚胎性肿瘤发生的关系。方法　采用聚合酶链式反应 单链构象多态性分析 (PCR SSCP)技术及DNA测序 ,对 55例肾母细胞瘤进行印迹基因BWR1A突变检测 ,以瘤旁组织为对照。结果　发现 6例肾母细胞瘤标本第 9外显子有异常泳动带。DNA测序其中 1例 1 0 93位G缺失 ,产生终止密码TGA。结论　BWR1A基因突变涉及胚胎性肿瘤发生 Objective To investigate the relationship between the newly discovered BWR1A mutation in imprinted genes and the development of embryonal tumors. Methods PCR-SSCP and DNA sequencing were used to detect the mutation of BWR1A in 55 cases of nephroblastoma. The tumor-adjacent tissues were used as a control. The results found that 6 cases of Wilms tumor specimens exon 9 abnormal migration zone. One case of DNA sequencing was deleted at G1093, resulting in a stop codon TGA. Conclusion The mutation of BWR1A gene is involved in embryonic tumorigenesis